Bioinformatics Application: Next-Generation Sequencing

Throughout the history of biological development, a sea of data related to genome

sequences, macromolecular structures and their resulting functions, much less interactive
networks among proteins, has been introduced worldwide. With a massive amount of
information, a new field branching from biology arises, bioinformatics, in order to generate
methods and software which assist the scientific researcher in storing, analyzing, and interpreting
biological data sources in a high-speed route. 

It is undeniable that bioinformatics is a combination of numerous scientific fields, leading

to its various application such as genomics, sequence analysis, computational evolutionary
biology, high-throughput image analysis, etc. The most striking application to me, however, the
next-generation sequencing which is nowadays the powerful tool to simultaneously deal with
millions or even billions of DNA strands in comparison with its former sequencing tool - Sanger,
boosting the sequencing process up to 1000 times faster and minimizing the cost to only 1000
USD each run. Despite its superb advantage, there is a relatively high percentage of
miscalculation (about 0.1-15%).

Having been through huge online materials, I have nothing but to admit that next-
generation sequencing (NGS) plays a key role in every biological aspect, especially for the sake
of creating a genes map of elaborated diseases such as Alzheimer's disease, breast cancer, or
even the hottest new virus - Corona (COVID-19). With the innovated genome-wide research,
scientists currently are accumulating enough sequence background to point out rapidly new
mutations from such dangerous diseases since they can vary in an unpredictable and complex
way, giving rise to a bunch of unknown mutants. Fourteen scattered laboratories located across
Latin American, for example, had participated in a survey project called "Sequencing technology
status of BRCA1/2 testing". BRCA1 and BRCA2 are abbreviations of the breast cancer
susceptibility genes 1 and 2 which connect to both breast and ovarian cancer in women. In this
study, they conducted the genetic test with the use of NGS, some of these laboratories refer to
Sanger sequencing - a former method of NGS; they had to isolate DNAs, decode them, then
analyze, and send out clinical reports. The results turned out that those laboratories shared
common genetic testing platforms with the same methodology and mutant classification
protocols, however, there are multiple variants of this pathogen from local patients of different
countries. This is a crucial study due to the genetic disorder usually discovered in Latin
American. Another study performed on Chinese women also reveals that the rearrangements of
BRCA1/2 genomes contribute dramatically to hereditary breast and ovarian cancer development
and any large genomic rearrangements should be taken into account when consulting inherited
breast cancer.

Generally speaking, next-generation sequencing is a novel branching mechanism from

bioinformatics that is beneficial in cutting-edge scientific research. With the continuous growth
of NGS, the secret of genomic information is step-by-step unlocked for a deep understanding of
why creatures' natures are the way they are, even ourselves. And it is NGS that simplifies the
process of detecting new variations correlated to threatening breast and ovarian cancer - a disease
ranked No.1 in cancer incidence and sixth in cancer-linked mortality in women. 

 References:

1. Luscombe NM, Greenbaum D, Gerstein M. What is bioinformatics? A proposed

definition and overview of the field. Methods Inf Med. 2001;40(4):346-58. PMID:
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2. Can T. Introduction to bioinformatics. Methods Mol Biol. 2014;1107:51-71. doi:
10.1007/978-1-62703-748-8_4. PMID: 24272431.
3. The Prevent Ovarian Cancer Program (POCP) (2016, August 19). What Are the BRCA1
and BRCA2 Genes?. Retrieved from https://www.preventovariancancer.ca/what-are-the-
brca1-brca2-genes
4. Solano, A.R., Palmero, E.I., Delgado, L. et al. Sequencing technology status of BRCA1/2
testing in Latin American Countries. npj Genom. Med. 5, 22 (2020).
https://doi.org/10.1038/s41525-020-0126-3
5. Cao, WM., Zheng, YB., Gao, Y. et al. Comprehensive mutation detection
of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast
and ovarian cancer in Chinese women. BMC Cancer 19, 551 (2019).
https://doi.org/10.1186/s12885-019-5765-3
6. Hossian, A.K.M.N., Zahra, F.T., Poudel, S. et al. Advanced bioinformatic analysis and
pathway prediction of NSCLC cells upon cisplatin resistance. Sci Rep 11, 6520 (2021).
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